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[Prenatal diagnosis of a case of Fryns' syndrome].

Abstract

Fryns' syndrome was reported for the first time in 1979 in children who died neonatally of prematurity and respiratory distress. This lethal, autosomal recessive syndrome is characterized by a diaphragmatic defect, pulmonary hypoplasia, a "coarse" face and distal limb abnormalities. This report presents a prenatal ultrasonographic diagnosis at 20 weeks' gestation of a case of Fryns' syndrome and defines the frequency of each of its abnormalities from the 38 cases listed in the literature.

Authors+Show Affiliations

Service de Gynécologie Obstétrique, Hôpital International de l'Université de Paris, Institut Mutualiste Montsouris.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

fre

PubMed ID

7730569

Citation

Barthe, B, et al. "[Prenatal Diagnosis of a Case of Fryns' Syndrome]." Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction, vol. 24, no. 1, 1995, pp. 57-62.
Barthe B, Cohen H, Saada P. [Prenatal diagnosis of a case of Fryns' syndrome]. J Gynecol Obstet Biol Reprod (Paris). 1995;24(1):57-62.
Barthe, B., Cohen, H., & Saada, P. (1995). [Prenatal diagnosis of a case of Fryns' syndrome]. Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction, 24(1), 57-62.
Barthe B, Cohen H, Saada P. [Prenatal Diagnosis of a Case of Fryns' Syndrome]. J Gynecol Obstet Biol Reprod (Paris). 1995;24(1):57-62. PubMed PMID: 7730569.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Prenatal diagnosis of a case of Fryns' syndrome]. AU - Barthe,B, AU - Cohen,H, AU - Saada,P, PY - 1995/1/1/pubmed PY - 1995/1/1/medline PY - 1995/1/1/entrez SP - 57 EP - 62 JF - Journal de gynecologie, obstetrique et biologie de la reproduction JO - J Gynecol Obstet Biol Reprod (Paris) VL - 24 IS - 1 N2 - Fryns' syndrome was reported for the first time in 1979 in children who died neonatally of prematurity and respiratory distress. This lethal, autosomal recessive syndrome is characterized by a diaphragmatic defect, pulmonary hypoplasia, a "coarse" face and distal limb abnormalities. This report presents a prenatal ultrasonographic diagnosis at 20 weeks' gestation of a case of Fryns' syndrome and defines the frequency of each of its abnormalities from the 38 cases listed in the literature. SN - 0368-2315 UR - https://www.unboundmedicine.com/medline/citation/7730569/[Prenatal_diagnosis_of_a_case_of_Fryns'_syndrome]_ L2 - http://www.diseaseinfosearch.org/result/2955 DB - PRIME DP - Unbound Medicine ER -